Canonical Allele Identifier: CA384913307

Gene: KRT86 KRT81

Linked Data

• dbSNP Id: rs1375715125
• gnomAD v2: 12-52680076-C-G
• MyVariant Identifiers: chr12:g.52680076C>G (hg19) ; chr12:g.52286292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52286292C>G , CM000674.2:g.52286292C>G	GRCh38
NC_000012.11:g.52680076C>G , CM000674.1:g.52680076C>G	GRCh37
NC_000012.10:g.50966343C>G	NCBI36
NG_008184.1:g.10224G>C
NG_008086.2:g.16648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.-5+10346C>G (KRT86) MANE Select	ENSP00000444533.1:n.-5+10346C>G
ENST00000327741.9:c.1481G>C (KRT81) MANE Select	ENSP00000369349.4:p.Gly494Ala
ENST00000423955.6:c.-5+10346C>G (KRT86)	ENSP00000444533.1:n.-5+10346C>G
ENST00000553310.6:c.-4-15621C>G (KRT86)	ENSP00000452237.3:n.-4-15621C>G
ENST00000615839.1:c.1420-2G>C (KRT81)	ENSP00000483796.1:n.1420-2G>C
NM_002281.3:c.1481G>C (KRT81)	NP_002272.2:p.Gly494Ala
XM_005268866.3:c.129+10346C>G (KRT86)	XP_005268923.1:n.129+10346C>G
XM_011538334.1:c.1481G>C (KRT81)	XP_011536636.1:p.Gly494Ala
XM_011538336.1:c.-5+10346C>G (KRT86)	XP_011536638.1:n.-5+10346C>G
XM_011538337.1:c.-5+10346C>G (KRT86)	XP_011536639.1:n.-5+10346C>G
XM_011538338.1:c.-5+10346C>G (KRT86)	XP_011536640.1:n.-5+10346C>G
NM_001320198.1:c.-5+10346C>G (KRT86)	NP_001307127.1:n.-5+10346C>G
XM_005268866.4:c.129+10346C>G (KRT86)	XP_005268923.1:n.129+10346C>G
XM_017019296.1:c.-103+10346C>G (KRT86)	XP_016874785.1:n.-103+10346C>G
NM_001320198.2:c.-5+10346C>G (KRT86) MANE Select	NP_001307127.1:n.-5+10346C>G
NM_002281.4:c.1481G>C (KRT81) MANE Select	NP_002272.2:p.Gly494Ala